Details for Combination OLI280

VARIANTS SOD1:c.112G>A, p.Gly38Arg in Heterozygous form; ANG:c.407C>T, p.Pro136Leu in Heterozygous form; DCTN1:c.3746C>T, p.Thr1249Ile in Heterozygous form
GENE COMBINATION ANG; DCTN1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 613435; 608627; 612069; 616208; 617839; 612577; 616437; 606070; 105400; 614808; 613954; 606640; 205250; 615426; 608031; 615515; 608030; 611895; 617892; 614696; 300857
DISEASES Amyotrophic lateral sclerosis
REFERENCES 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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